ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.824dup (p.Asn275fs)

dbSNP: rs886041922
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000357647 SCV000330727 pathogenic not provided 2016-08-03 criteria provided, single submitter clinical testing The c.824dupA pathogenic variant in the TSC2 gene causes a frameshift starting with codon Asparagine 275, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 63 of the new reading frame, denoted p.N275KfsX63. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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